CNBC's Becky Quick details daughter's rare disease journey
CNBC "Squawk Box" anchor Becky Quick details her daughter's rare disease journey, and explains why it inspired her to launch CNBC Cures.
TL;DR
- Kaylie, the author's youngest daughter, has SYNGAP1, a rare genetic disease affecting brain development, causing seizures, developmental delays, intellectual disabilities, and severe autism.
- Individuals with SYNGAP1 have unique dendrite structures in their brains, leading to sensory overload and difficulties with body control.
- Kaylie faces challenges with speech (apraxia) and uncontrolled body movements, often misunderstood and judged by the public.
- The author emphasizes the lack of resources and the lonely journey for families affected by rare diseases.
- CNBC Cures aims to unite stakeholders to accelerate research, identify and remove roadblocks to scientific progress, and find cures for rare diseases.
- Technological advancements like AI, gene therapy, and ASO therapies offer hope, but time is critical for patients with rare diseases.